Table 1.
Nucleotide substitutions identified in Desmin gene in patients affected with arrhythmogenic right ventricular cardiomyopathy (ARVC)
| Exon | Nucleotide Change | Amino Acid Change | dbSNP/1000Genomes ID | MAF |
|---|---|---|---|---|
| 1 | c.75A>G | p.P25P | rs1318299 | 0.089 |
| 1 | c.93T>C | p.S31S | rs2017800 | 0.100 |
| 1 | c.408C>T | p.L136L | rs111828114 | 0.021 |
| Intron 1 | c.579-38C>T | − | rs12991025 | 0.456 |
| 2 | c.638C>T | p.A213V | rs41272699 | 0.008; 0.012∗ |
| 3 | c.669T>C | p.I223I | rs75882680 | 0.022 |
| 3 | c.721A>G | p.K241E | 1000GENOMES_2_220285054 | <0.01; 0.000∗ |
| Intron 3 | c.735+20C>T | − | rs151226355 | 0.005; 0.013∗ |
| Intron 3 | c.736-35C>A | − | rs41272701 | 0.018 |
| Intron 3 | c.736-11A>G | − | novel (GenBank JX114779) | 0.000∗ |
| 4 | c.828C>T | p.D276D | rs1058261 | 0.347 |
| 5 | c.1014G>C | p.L338L | rs12920 | 0.347 |
| 6 | c.1104G>A | p.A368A | rs1058284 | 0.342 |
ID = identification number; MAF = minor allele frequency.
∗
MAF estimated in the Italian control population for nucleotide changes not reported in SNP databases or showing MAF <0.01.